Varaico: Literature-Extracted Genetic Variants

Gene:CYP1B1
Variant:p.R48G
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CYP1B1

NM_000104.4:p.R48G

Associated Papers

Decoding the Impact of Genetic Polymorphisms in Xenobiotic Metabolizing Enzymes and Ovarian Cancer: A Comprehensive Review.

Sistla HC et al.

Environmental and Molecular Mutagenesis, 2025

Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.

Prost R et al.

International Journal of Molecular Sciences, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_3

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Elksne E et al.

Biomedicines, 2025

The importance of CYP1B1 polymorphism in obesity.

Cilekar M et al.

Medicine, 2025

Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.

Yadav M et al.

Japanese Journal of Ophthalmology, 2025

Heme-thiolate monooxygenase cytochrome P450 1B1, an old dog with many new tricks.

Kim JW et al.

Pharmacological Reviews, 2025

Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review.

Mokhosoev IM et al.

Cells, 2024

Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.

Szuman M et al.

International Journal of Molecular Sciences, 2024

Analysis of CYP1B1 Polymorphisms in Lung Cancer Patients Using Novel, Quick and Easy Methods Based on CAPS and ACRS-PCR Techniques.

Dąbrowski A et al.

International Journal of Molecular Sciences, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Genetic architecture of mammographic density as a risk factor for breast cancer: a systematic review.

Khorshid Shamshiri A et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2023

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.

Narta K et al.

Genes, 2023

36833422 (PubMed )
Supplement: genes-14-00495-s001.zip › Narta_et_al_Supplementary_Tables.xlsx › Table_S2_KnownGeneVariation

Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.

Reyes-González J et al.

Neuro-oncology, 2023

35802478 (PubMed )
Supplement: noac171_suppl_suplementary_table_s1.xlsx › Table_S1

Human Cytochrome P450 1, 2, 3 Families as Pharmacogenes with Emphases on Their Antimalarial and Antituberculosis Drugs and Prevalent African Alleles.

Chamboko CR et al.

International Journal of Molecular Sciences, 2023

36834793 (PubMed )
Supplement: ijms-24-03383-s001.zip › ijms-2130595-supplementary.pdf

Role of Genetic Polymorphisms in Drug-Metabolizing Enzyme-Mediated Toxicity and Pharmacokinetic Resistance to Anti-Cancer Agents: A Review on the Pharmacogenomics Aspect.

Narendra G et al.

Clinical Pharmacokinetics, 2022

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Genetic variants affecting chemical mediated skin immunotoxicity.

Rodrigues de Souza I et al.

Journal of Toxicology and Environmental Health. Part B, Critical Reviews, 2022

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.

Jemmeih S et al.

Ophthalmic Epidemiology, 2022

Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.

Tehreem R et al.

Plos One, 2022

Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.

Shahid M et al.

Peerj, 2022

36518267 (PubMed )
Supplement: peerj-10-14132-s001.xlsx › PANTHER

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genetic Variation and Hot Flashes: A Systematic Review.

Crandall CJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations.

Ivanoshchuk DE et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2020

Redundant meta-analyses are common in genetic epidemiology.

Sigurdson MK et al.

Journal of Clinical Epidemiology, 2020

Steroid hormone-related polymorphisms associate with the development of bone erosions in rheumatoid arthritis and help to predict disease progression: Results from the REPAIR consortium.

Sánchez-Maldonado JM et al.

Scientific Reports, 2019

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Afzal R et al.

Congenital Anomalies, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients.

Canet LM et al.

The Pharmacogenomics Journal, 2019

CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.

Coêlho REA et al.

Journal of Glaucoma, 2019

TP53 and DNA-repair gene polymorphisms genotyping as a low-cost lung adenocarcinoma screening tool.

Cavic M et al.

Journal of Clinical Pathology, 2019

Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma.

Khafagy MM et al.

International Journal of Ophthalmology, 2019

Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.

Song N et al.

International Journal of Ophthalmology, 2019

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.

Svidnicki PV et al.

Ophthalmic Genetics, 2018

Single-nucleotide polymorphisms and mRNA expression of CYP1B1 influence treatment response in triple negative breast cancer patients undergoing chemotherapy.

Abdul Aziz AA et al.

Journal of Genetics, 2018

Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or docetaxel: a study in locally advanced breast cancer patients participating in the NCT00123929 phase 2 randomized trial.

Ruiz-Pinto S et al.

Pharmacogenetics and Genomics, 2018

Relationship between CYP1B1 polymorphisms (c.142C > G, c.355G > T, c.1294C > G) and lung cancer risk in Polish smokers.

Sawrycki P et al.

Future Oncology (london, England), 2018

Vasomotor, urogenital, psychological, and somatic symptoms in association with CYP1B1 polymorphisms in Slovak women of different menopausal status.

Candráková Čerňanová V et al.

American Journal of Human Biology : the Official Journal of the Human Biology Council, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."